LP36750-5

PWS gene

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Descriptions

Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are rare genetic disorders in which several genes (e.g. SNRPN, UBE3A) on chromosome 15(q11-13) are deleted or unexpressed. Alterations in the PWS/AS region (15q11-13) may occur by several genetic mechanisms, including chance mutation, uniparental disomy, sporadic mutations, chromosome translocations, and gene deletions. PWS and AS are some of the first reported instances of imprinting disorders in humans. In PWS, the maternally inherited copies of genes are virtually silent due to imprinting. Only the paternal copies of the genes are expressed. Therefore, PWS results from the loss of paternal copies of this region. Alternately, AS is caused by deletion or inactivation of genes on the maternally inherited chromosome 15 while the paternal copy, which may be of normal sequence, is imprinted and therefore silenced.

Characteristic features of PWS include diminished fetal activity, obesity, hypotonia, developmental delay, short stature, hypogonadotropic hypogonadism, strabismus, and small hands and feet. AS is characterized by intellectual and developmental disability, sleep disturbance, seizures, jerky movements (especially hand-flapping), frequent laughter or smiling, and usually a happy demeanor. Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details. Source: Wikipedia, Prader-Willi Syndrome (PWS) and Angleman Syndrome (AS), Genomic Imprinting

The PWS gene (Prader-Willi syndrome chromosome region) gene is located on chromosome 15q11-q12. A number sign (#) is used with this entry because of evidence that Prader-Willi syndrome (PWS) is in effect a contiguous gene syndrome resulting from deletion of the paternal copies of the imprinted SNRPN gene (MIM 182279), the necdin gene (MIM 602117), and possibly other genes within the chromosome region 15q11-q13. Prader-Willi syndrome is characterized by diminished fetal activity, obesity, muscular hypotonia, mental retardation, short stature, hypogonadotropic hypogonadism, and small hands and feet. It can be considered to be an autosomal dominant disorder and is caused by deletion or disruption of a gene or several genes on the proximal long arm of the paternal chromosome 15 or maternal uniparental disomy 15, because the gene(s) on the maternal chromosome(s) 15 are virtually inactive through imprinting. Horsthemke and Wagstaff (2008) PMID: 18627066 provided a detailed review of the mechanisms of imprinting of the Prader-Willi/Angelman syndrome (MIM 105830) region. See also the chromosome 15q11-q13 duplication syndrome (MIM 608636), which shows overlapping clinical features.[supplied by OMIM] [NCBI Gene ID:5821] Source: National Center for Biotechnology Information (NCBI) Gene

Reference Information

Basic Part Properties

Part Name

PWS gene

Part Display Name

PWS gene

Part Type

Component (Describes the core component or analyte measured)

Created On

2006-03-13

Construct for LOINC Short Name

PWS gene

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